Disease Term Disease ID Gene Symbol Classification References Source
Infantile cerebellar-retinal degeneration 313850 ACO2 Causal Pathogenic evidence from ClinVar - ClinVar
INFANTILE CEREBELLAR-RETINAL DEGENERATION C3281192 ACO2 Causal Pathogenic evidence from ClinVar 22405087, 25351951 ClinVar
POLR3H Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -